Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2069623 | Mitochondrion | 2009 | 7 Pages |
Abstract
The Complex I NADH dehydrogenase–ubiquinone–FeS 4 (NDUFS4) subunit gene is involved in proper Complex I function such that the loss of NDUFS4 decreases Complex I activity resulting in mitochondrial disease. Therefore, a mouse model harboring a point mutation in the NDUFS4 gene was created. An embryonic lethal phenotype was observed in homozygous (NDUFS4−/−) mutant fetuses. Mitochondrial function was impaired in heterozygous animals based on oxygen consumption, and Complex I activity in NDUFS4 mouse mitochondria. Decreased Complex I activity with unaltered Complex II activity, along with an accumulation of lactate, were consistent with Complex I disorders in this mouse model.
Keywords
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biophysics
Authors
Christopher A. Ingraham, Lindsay S. Burwell, Jolanta Skalska, Paul S. Brookes, Robert L. Howell, Shey-Shing Sheu, Carl A. Pinkert,